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Adams Oliver Syndrome

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Synonyms of Adams Oliver Syndrome

Disorder Subdivisions

General Discussion

Adams-Oliver syndrome (AOS) is an extremely rare inherited disorder characterized by defects of the scalp and abnormalities of the fingers, toes, arms, and/or legs. The physical abnormalities associated with this disorder vary greatly among affected individuals. Some cases may be very mild while others may be severe. In infants with Adams-Oliver syndrome, scalp defects are present at birth (congenital) and may include one or multiple hairless scarred areas that may have abnormally wide (dilated) blood vessels directly under the affected skin. In severe cases, an underlying defect of the bones of the skull may also be present. In addition, infants with this disorder typically have malformations of the hands, arms, feet, and/or legs. These range from abnormally short (hypoplastic) fingers and toes to absent hands and/or lower legs. In some cases, additional abnormalities may also be present. Most cases of AOS appear to follow autosomal dominant inheritance but autosomal recessive inheritance has also been reported.

Symptoms

The physical abnormalities associated with Adams-Oliver syndrome vary greatly among affected individuals. While some cases may be very mild, others may be severe. Limb and scalp defects are the most common findings.

Infants with Adams-Oliver syndrome may exhibit one or multiple hairless scarred areas of skin on the scalp. The depth and size (diameter) of the lesions vary greatly from case to case. In some affected individuals, the scalp lesions may become ulcerated or infected. However, in most cases, these skin lesions heal without treatment (spontaneously) within the first few months of life. In some infants with Adams-Oliver syndrome, abnormally wide (dilated) blood vessels may be apparent under the skin lesions. In severe cases, these fragile dilated blood vessels may bleed (hemorrhage).

In severe cases, the scalp and vascular defects described above may be associated with an underlying bone defect, including absence of bone in certain areas of the skull. In very severe cases, certain tissues beneath the skull may become exposed, resulting in increased susceptibility to excessive bleeding (hemorrhage) and/or bacterial infections such as meningitis. The scalp defects associated with Adams-Oliver syndrome resemble aplasia cutis congenita. (For more information on meningitis and aplasia cutis congenita, see the Related Disorders section of this report.)

Infants with Adams-Oliver syndrome also exhibit malformations of the fingers, toes, hands, and/or feet. Some affected infants may have abnormally short fingers and/or toes (digits) due to underdevelopment (hypoplasia) or absence of certain bones in the hands and/or feet (metacarpals and/or phalanges [terminal]). In severe cases, the fingers, toes, hands, feet, and/or lower legs may be partially or completely absent. Affected individuals may also have webbing of toes (syndactyly) and underdeveloped (hypoplastic) toenails. In general, the lower extremities (i.e., lower legs, feet, and toes) are more severely affected.

Approximately 20 percent of infants with Adams-Oliver syndrome may have an associated heart defect that is present at birth (congenital heart defect) such as ventricular septal defects (VSDs). The normal heart has four chambers. The two upper chambers, known as atria, are separated from each other by a fibrous partition known as the atrial septum. The two lower chambers are known as ventricles and are separated from each other by the ventricular septum. Valves connect the atria (left and right) to their respective ventricles. The aorta, the main vessel of arterial circulation, carries blood away from the left ventricle to the rest of the body. A VSD may occur in any portion of the ventricular septum. The size and location of the defect determine the severity of the symptoms. A small ventricular septal defect may close on its own (spontaneously) or become less significant as the child matures and grows. A moderately-sized defect may affect the ability of the heart to pump blood efficiently to the lungs and the rest of the body (congestive heart failure). Symptoms associated with heart failure may include an abnormally rapid rate of breathing (tachypnea), wheezing, an unusually fast heartbeat (tachycardia), failure to grow at the expected rate (failure to thrive), and/or other findings.

Additional congenital heart defects sometimes associated with Adams-Oliver syndrome may include atrial septal defects (ASDs); a double-outlet right ventricle, a condition in which both the aorta (AO) and pulmonary artery (PA) improperly arise from the right ventricle; and a condition known as tetralogy of Fallot. (For more information on this disorder, choose "Tetralogy of Fallot" in the Rare Disease Database.)

Additional findings have been reported in children with Adams-Oliver syndrome including central nervous system abnormalities and high blood pressure of the main artery of the lungs (pulmonary hypertension). In some cases, affected children also develop a disorder known as cutis marmorata telangiectatica congenita (CMTC). (For more information on CMTC, see the Related Disorders section of this report).

Causes

Most cases of AOS appear to follow autosomal dominant inheritance. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy. The risk is the same for males and females.

The physical findings associated with Adams-Oliver syndrome (e.g, scalp defects and abnormalities of the fingers, toes, arms, and/or legs) may vary greatly in severity from case to case (variable expressivity). In addition, all of the characteristics associated with this disorder may not be manifested in all those who inherit the gene (incomplete penetrance).

Autosomal recessive inheritance has also been reported. Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.

All individuals carry 4-5 abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

Some researchers believe that the physical characteristics associated with Adams-Oliver syndrome may be the result of interrupted blood flow through certain arteries during fetal development. The term "Subclavian Artery Supply Disruption Sequence (SASDS)" has been suggested for a group of developmental disorders that may occur due to disruption of blood flow through certain arteries (i.e., subclavian artery, vertebral artery, and/or various arterial branches) during fetal development. These disorders include Poland syndrome, Klippel-Feil syndrome, Moebius syndrome, and Sprengel deformity.

Affected Populations

Adams-Oliver syndrome is an extremely rare disorder that appears to affect males and females in equal numbers. More than 125 affected individuals have been reported in the medical literature. The major physical features of Adams-Oliver syndrome (i.e., scalp defects and limb abnormalities) are apparent at birth (congenital).

Related Disorders

Symptoms of the following disorders can be similar to those of Adams-Oliver syndrome. Comparisons may be useful for a differential diagnosis:

Cutis marmorata telangiectatica congenita (CMTC) is a rare inherited disorder characterized by unusual discolored patches of skin caused by widened (dilated) surface blood vessels (livedo reticularis telangiectases). As a result, the skin has a purple or blue marbled or "fishnet" appearance. In many affected individuals, large lesions (ulcers) or complete absence of the skin in affected areas are also apparent. The skin abnormalities of CMTC may improve with age. More than 50 percent of affected individuals have other associated abnormalities including red to red-purple benign tumors consisting of a mass of blood vessels (nevus flammeus); loss of muscle tissue (wasting) on one side of the body (hemiatrophy); elevated fluid pressure within the eye (glaucoma); complete or partial absence of an arm and/or leg (transverse limb defects); undergrowth (hypotrophy) of one leg; underdevelopment (hypoplasia) of the jaw; and/or abnormal curvature of the nose. Most cases of cutis marmorata telangiectatica congenita occur randomly for no apparent reason (sporadically). (For more information on this disorder, choose "Cutis Marmorata Telangiectatica Congenita" as you search term in the Rare Disease Database.)

Bart type epidermolysis bullosa dystrophica (Bart syndrome) is a rare skin disorder in which congenital absence of the skin in certain areas (localized) may be a major feature. In most cases, affected individuals may also have fragile skin that blisters upon exposure to minor trauma and/or absence or malformation (dystrophy) of the fingernails and toenails. Epidermolysis bullosa dystrophica, Bart type has autosomal dominant inheritance.

There are other congenital disorders (e.g., focal dermal hypoplasia, trisomy 13 syndrome, amniotic bands, Johanson-Blizzard syndrome, etc.) that may be characterized by scalp and skull defects that occur in association with abnormalities of the hands and feet. These disorders usually have other physical features that may differentiate them from Adams-Oliver syndrome. (For more information on these disorders, choose the exact disease name in question as your search term in the Rare Disease Database.)

The following disorders may be associated with Adams-Oliver syndrome as secondary characteristics. They are not necessary for a differential diagnosis:

Aplasia cutis congenita is a rare inherited disorder of infancy characterized by the lack of skin and hair in certain areas (localized), most often on the scalp. In some cases, the trunk (torso), arms, and/or legs may also be affected. Involved areas are covered by a thin transparent membrane rather than normal skin. Some affected individuals may only exhibit absence of the skin while others may also exhibit abnormal development of the underlying tissues. In some cases, affected areas may be seen through the transparent membrane. Aplasia cutis congenita may be inherited as an autosomal dominant or recessive genetic trait. (For more information on this disorder, choose "Aplasia Cutis Congenita" as your search term in the Rare Disease Database.)

Meningitis is characterized by acute inflammation of the membranes (meninges) that surround the brain and spinal cord (central nervous system). Meningitis may be caused by bacteria or certain viruses. Symptoms may include a general feeling of ill health (malaise), nausea, abdominal pain, headaches, and stiffness of the neck and back. Meningitis may occur in some children with Adams-Oliver syndrome who have severe defects of the scalp and skull. (For more information on this disorder, choose "Meningitis" as your search term in the Rare Disease Database.)

Standard Therapies

Diagnosis
The diagnosis of Adams-Oliver syndrome may be suspected at birth based upon the identification of characteristic scalp and skull defects occurring in association with malformations of the fingers, toes, hands, and/or feet. The diagnosis may be confirmed by a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests, such as advanced imaging techniques. In some cases, it may be possible to detect defects of the skull and/or limbs before birth (prenatally) through the use of advanced imaging techniques such as ultrasound. During fetal ultrasonography, reflected sound waves are used to create an image of the developing fetus.

Treatment
The treatment of Adams-Oliver syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, orthopedic and plastic surgeons, cardiologists, physical therapists, and other health care professionals may need to systematically, and comprehensively plan an affected child's treatment.

In many cases, scalp defects may heal without treatment (spontaneously) within the first few months of life. Skin grafting, cranial surgery, and/or other surgical procedures may be required for affected individuals who exhibit underlying defects of the bones of the skull. In addition, physicians may recommend that some affected children wear helmets in order to prevent trauma to the head and potential damage to abnormally wide (dilated) blood vessels.

Physical therapy, surgery, and/or the use of artificial limbs (prostheses) may be recommended for children who exhibit partial or complete absence of fingers, toes, hands, feet, and/or lower legs.

In addition, affected children should receive a complete medical evaluation for heart (cardiac) abnormalities that are sometimes associated with this Adams-Oliver syndrome.

Genetic counseling will be of benefit for affected individuals and their families. Family members of affected individuals should also receive regular clinical evaluations to detect any symptoms and physical characteristics that may be potentially associated with Adams-Oliver syndrome. Other treatment for this disorder is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

Adams Oliver Syndrome Resources

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., skin abnormalities, limb and skull defects, etc.].)

Organizations:

References

TEXTBOOKS
Beford HM, Teebi AS. Adams-Oliver Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:148.

Jones KL, ed. Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, PA: W. B. Saunders Co: 1997:314.

Champion RH, Burton JL, Ebling FJG, eds. Textbook of Dermatology. 5th ed. Cambridge, MA: Blackwell Scientific Publications; 1992:519-22.

Buyce ML, ed. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications; For: The Center for Birth Defects Information Services Inc; 1990:1056

JOURNAL ARTICLES
Patel MS, Taylor GP, Bharya S, et al. Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome. Am J Med Genet. 2004;129A:294-9.

Piazza AJ, Blackston D, Sola A. A case of Adams-Oliver syndrome with associated brain and pulmonary involvement: further evidence of vascular pathology? Am J Med Genet. 2004;130A:172-5.

Verdyck P, Holder-Espinasse M, Hul WV, Wuyts W. Clinical and molecular analysis of nine families with Adams-Oliver syndrome. Eur J Hum Genet. 2003;11:457-63.

Beekmans SJ, Wiebe MJ. Surgical treatment of aplasia cutis in the Adams-Oliver syndrome. J Craniofac Surg. 2001;12:569-72.

Unay B, Sarici SU, Gül D, Akin R, Gökçay E. Adams-Oliver syndrome: further evidence for autosomal recessive inheritance. Clin Dysmorphol. 2001;10:223-5.

Zapata HH, Sletten LJ, Pierpont ME. Congenital cardiac malformations in Adams-Oliver syndrome. Clin Genet. 1995;47:80-4.

Bamforth JS, Kaurah P, Byrne J, Ferreira P. Adams Oliver syndrome: a family with extreme variability in clinical expression. Am J Med Genet. 1994;49:393-6.

Dyall-Smith D, Ramsden A, Laurie S. Adams-Oliver syndrome: aplastia cutis congenita, terminal transverse limb defects and cutis marmorata telangiectatica congenita. Australas J Dermatol. 1994;35:19-22.

Frank RA, Frosch PJ. Adams-Oliver syndrome: cutis marmorata teleangiectatica congenita with multiple anomalies. Dermatology. 1993;187:205-8.

Chitayat D, Meunier C, Hodgkinson KA, Robb L, Azouz M. Acrania: a manifestation of the Adams-Oliver syndrome. Am J Med Genet. 1992;44:562-6.

Bork K, Pfeifle J. Multifocal aplasia cutis congenita, distal limb hemimelia, and cutis marmorata telangiectatica in a patient with Adams-Oliver syndrome. Br J Dermatol. 1992;127:160-3.

Arand AG, Ball WS, Crone KR. Congenital scalp defects: Adams-Oliver syndrome. A case report and review of the literature. Pediatr Neurosurg. 1991-92;17:203-7.

Whitley CB, Gorlin RJ. Adams-Oliver syndrome revisited. Am J Med Genet. 1991;40:319-26.

David A, Rozé JC, Melon-David V. Adams-Oliver syndrome associated with congenital heart defect: not a coincidence (letter). Am J Med Genet. 1991;40:126-7.

Jaeggi E, Kind C, Morger R. Congenital scalp and skull defects with terminal transverse limb anomalies (Adams-Oliver syndrome): report of three additional cases. Eur J Pediatr. 1990;149:565-6.

Küster W, Lenz W, Kääriäinen H, Majewski F. Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): report of ten cases and review of the literature. Am J Med Genet. 1988;31:99-115.

Toriello HV, Graff RG, Florentine MF, Lacina S, Moore WD. Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome? Am J Med Genet. 1988;29:269-76.

Koiffmann CP, Wajntal A, Huyke BJ, Castro RM. Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome - - Mckusick 10030): further suggestion of autosomal recessive inheritance. Am J Med Genet. 1988;29:263-8.

INTERNET
McKusick, VA, ed. Online Mendelian Inehritance in Man (OMIM). Johns Hopkins University, Last Edit Date 9/19/08, Entry Number 100300; Last Edit Date 7/6/95, Entry Number 219250; Last Edit Date 6/12/96, Entry Number 132000.

Report last updated: 2009/04/06 00:00:00 GMT+0